Genealogical studies in LRRK2-associated Parkinson's disease in central Norway

Parkinsonism & Related Disorders
Krisztina K JohansenJan O Aasly

Abstract

The most common mutation related to Parkinson's disease (PD) is the p.G2019S mutation in the LRRK2 gene. Global population frequencies and crude estimates of haplotype conservation suggest most carriers are related. A total of 671 Norwegian PD patients and 215 of their family members were screened for the LRRK2 p.G2019S mutation. Twenty-one PD cases and 44 family members were positive for the mutation and all could be traced back to 10 different families. A genealogical study employed data from the Norwegian National Family Record Centre, local parish registers and population censuses. A common ancestor couple (living between 1580 and 1650) was found in six families, and two other families were associated by intermarriage. The remaining two families could not be traced back to either of these ancestors, though chromosome 12q12 haplotype analysis showed p.G2019S carriers shared alleles for 15 markers in the LRRK2 region. The study provides support for a common ancestor in Norwegian families with LRRK2 p.G2019S parkinsonism. The mutation was probably introduced to Norway through tradesmen from Europe. The extended pedigree that now links modern day carriers may help in mapping penetrance modifiers.

References

Jan 29, 1999·Archives of Neurology·D J GelbS Gilman
Feb 1, 2005·Lancet·William C NicholsUNKNOWN Parkinson Study Group-PROGENI investigators
Feb 1, 2005·Lancet·Alessio Di FonzoUNKNOWN Italian Parkinson Genetics Network
Feb 1, 2005·Lancet·William P GilksNicholas W Wood
Sep 9, 2005·American Journal of Human Genetics·Suzanne LesageUNKNOWN French Parkinson's Disease Genetics Study Group
Jan 27, 2006·Annals of Neurology·Owen A RossDennis W Dickson
Jan 27, 2006·Annals of Neurology·Benoit I GiassonVivianna M Van Deerlin
Oct 25, 2006·Neurology·A RajputM J Farrer
Jul 12, 2008·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Spiridon PapapetropoulosElizabeth Chroni

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Citations

Dec 23, 2011·Parkinsonism & Related Disorders·Nobutaka Hattori
Dec 23, 2011·Parkinsonism & Related Disorders·Tasneem Peeraully, E K Tan
Dec 23, 2011·Parkinsonism & Related Disorders·Qing XuChenjian Li
Oct 14, 2014·Frontiers in Aging Neuroscience·Jan O AaslyOmar M A El-Agnaf
Jun 6, 2020·Journal of Movement Disorders·Jan O Aasly
Aug 3, 2020·Acta Neurologica Scandinavica·Mari MuldmaaSulev Kõks
May 23, 2017·Movement Disorders Clinical Practice·Emil K GustavssonJan O Aasly
Mar 24, 2018·Brain and Behavior·Bjørg Johanne Warø, Jan O Aasly
May 28, 2020·Frontiers in Neurology·Eldbjørg Hustad, Jan O Aasly

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